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1.
Neuromuscul Disord ; 18(7): 565-71, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18513969

RESUMO

Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and subsequently reported in patients with milder phenotypes characterised by mental retardation with or without brain abnormalities and without ocular malformations. As part of a multicentric Italian study we screened the POMT1 and POMT2 genes in 61 congenital muscular dystrophy (CMD) patients with alpha-dystroglycan reduction on muscle biopsy and/or clinical and radiological findings suggestive of the known forms of CMD with alpha-dystroglycan deficiency. The aim of the study was to establish how frequently mutations in POMT1 and POMT2 occur in CMD patients in the Italian population and to evaluate the spectrum of associated phenotypes. Thirteen patients showed mutations in POMT1 and five harboured mutations in POMT2, accounting for a total of 20 different mutations, eight of which were novel (two in POMT1 and six in POMT2). Normal brain MRI associated with mental retardation and microcephaly was the most frequent finding in patients with mutations in POMT1 (six out of 13), but was also found in a patient with POMT2 mutations. Predominant cerebellar hypoplasia was also frequent both in patients with POMT1 (three out of 13) and POMT2 (three out of 5) mutations. A MEB phenotype with frontal cortical dysplasia and pons abnormalities was found in two patients with POMT1 and in one with POMT2 mutations, while a WWS phenotype was only found in a case with mutations in POMT1. Mutations causing frameshifts and stop codons were responsible for the more severe phenotypes. Our results provide further evidence that, as previously reported for FKRP, the array of mutations in POMT1 and POMT2 is ample and the spectrum of associated phenotypes is wider than initially thought.


Assuntos
Saúde da Família , Manosiltransferases/genética , Distrofias Musculares/genética , Mutação , Adolescente , Adulto , Encefalopatias/genética , Encefalopatias/patologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Distroglicanas/metabolismo , Feminino , Humanos , Itália , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/patologia , Fenótipo
2.
Neuromuscul Disord ; 13(4): 303-9, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12868499

RESUMO

Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy. We studied six patients with beta-sarcoglycanopathy. Immunohistochemical and immunoblot analysis performed on skeletal muscle biopsies from five patients, showed the loss of all sarcoglycans in three cases and marked reduction in two patients. Non-invasive cardiac examinations revealed that three patients had cardiac involvement: one had a severe Duchenne-like dystrophy, lethal dilated cardiomyopathy, and shared the same mutation reported in another cardiomyopathic patient; the other two patients had limb-girdle dystrophy and moderate cardiac involvement (one of them has a novel gene mutation). Given the age profile of the patients studied, the 50% cardiac involvement found in our LGMD2E patients is likely to be a conservative estimate. Careful cardiac monitoring should be carried out in beta-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy.


Assuntos
Cardiomiopatia Dilatada/etiologia , Proteínas do Citoesqueleto/metabolismo , Glicoproteínas de Membrana/metabolismo , Músculo Esquelético/metabolismo , Distrofias Musculares/complicações , Adolescente , Adulto , Biópsia , Western Blotting , Cardiomiopatia Dilatada/metabolismo , Criança , Proteínas do Citoesqueleto/genética , Distroglicanas , Feminino , Humanos , Imuno-Histoquímica , Masculino , Glicoproteínas de Membrana/genética , Distrofias Musculares/metabolismo , Mutação , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Risco , Índice de Gravidade de Doença
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